Varaico: Literature-Extracted Genetic Variants

ABCC9

495 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membraneaa 297–585UCSCABC transporter transmembrane region

ABC_tranaa 688–840UCSCABC transporter

ABC_membraneaa 994–1266UCSCABC transporter transmembrane region

ABC_tranaa 1329–1477UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 9

HGNC Alias Symbols

SUR2; CMD1O

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_020297.4

p.T1202M

c.3605C>T

Surrounding Variants

7 papers

NM_020297.4

p.M1198I

c.3594G>T

7 papers

NM_020297.4

p.M1198I

c.3594G>C

7 papers

NM_020297.4

p.M1198I

c.3594G>A

1 paper

NM_020297.4

p.N1206K

c.3618C>G

1 paper

NM_020297.4

p.N1206K

c.3618C>A

2 papers

NM_020297.4

p.R1197H

c.3590G>A

7 papers

NM_020297.4

p.R1197C

c.3589C>T

1 paper

NM_020297.4

p.Y1209H

c.3625T>C

1 paper

NM_020297.4

p.K1195I

c.3584A>T

1 paper

NM_020297.4

p.Y1209S

c.3626A>C

1 paper

NM_020297.4

p.S1213A

c.3637T>G

1 paper

NM_020297.4

p.H1190Y

c.3568C>T